Cognitive and adaptive functioning of CTNNB1 syndrome patients: a comparison with autism spectrum disorder and cerebral palsy

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dc.contributor.authorPallarès Sastre, Mercè
dc.contributor.authorAmayra Caro, Imanol
dc.contributor.authorPulido, Rafael
dc.contributor.authorNunes Xavier, Caroline Elisabeth
dc.contributor.authorBañuelos Rodriguez, Sonia
dc.contributor.authorCavaliere, Fabio
dc.contributor.authorGarcía Martín, Maitane
dc.date.accessioned2025-10-16T14:28:58Z
dc.date.available2025-10-16T14:28:58Z
dc.date.issued2025-03-27
dc.date.updated2025-10-16T14:28:58Z
dc.description.abstractBackground: The CTNNB1 syndrome is a neurodevelopmental disorder considered an ultra-rare disease, first discovered in 2012. Given its comorbidity of symptoms with more prevalent diseases, such as ASD or CP, many CTNNB1 syndrome patients had previously received those diagnosis. Therefore, the aim of this study is to establish differences on the cognitive and adaptive functioning of the CTNNB1 syndrome compared with ASD and CP. Methods: A total of 55 paediatric patients—25 CTNNB1 syndrome, 17 ASD and 13 PC—were assessed with an extensive protocol for neuropsychological domains through in-person assessments and online meetings for the parent-reported questionnaire. Results: No cognitive differences were found among verbal tasks between groups, even though CTNNB1 syndrome patients obtained significantly lower scores in visuospatial and logical tasks. Regarding adaptive functioning, ASD patients outperformed the CTNNB1 syndrome group in most domains, whereas CP patients did not differ as much, obtaining only lower scores in gross motor ability. Externalizing problems were more prevalent in the CTNNB1 syndrome group compared with the control groups. Also, correlations indicated improvement of cognitive and adaptive functioning over the years for the CTNNB1 syndrome patients. Conclusions: This is the first study to compare the cognitive and adaptive functioning of CTNNB1 syndrome patients with control diseases and detect significant difference. Although intellectual disability is one of the main manifestations of the CTNNB1 syndrome, patients performed better on verbal cognitive tasks than in visuospatial and logical thinking exercises, while adaptive functioning performances did not differ from control groups.en
dc.description.sponsorshipThis study was funded by the Ministry of Sciences, Innovation and Universities of Spain under Grant “Formación Profesorado Universitario” (FPU22/00391 to Mercè Pallarès); “Fundación Inocente Inocente” under Grant FII2024-69; and “Federación Española de Enfermedades Raras” (FEDER) at the VIII call for research grants of the FEDER Foundationen
dc.identifier.citationPallarès-Sastre, M., Amayra, I., Pulido, R., Nunes-Xavier, Caroline E., Bañuelos, S., Cavaliere, F., & García, M. (2025). Cognitive and adaptive functioning of CTNNB1 syndrome patients: a comparison with autism spectrum disorder and cerebral palsy. Journal of Intellectual Disability Research, 69(7), 558-568. https://doi.org/10.1111/JIR.13235
dc.identifier.doi10.1111/JIR.13235
dc.identifier.eissn1365-2788
dc.identifier.issn0964-2633
dc.identifier.urihttps://hdl.handle.net/20.500.14454/3999
dc.language.isoeng
dc.publisherJohn Wiley and Sons Inc
dc.rights© 2025 The Author(s)
dc.subject.otherAdaptive functioning
dc.subject.otherAutism spectrum disorder
dc.subject.otherCerebral palsy
dc.subject.otherCTNNB1 syndrome
dc.subject.otherNeuropsychological profile
dc.titleCognitive and adaptive functioning of CTNNB1 syndrome patients: a comparison with autism spectrum disorder and cerebral palsyen
dc.typejournal article
dcterms.accessRightsopen access
oaire.citation.endPage568
oaire.citation.issue7
oaire.citation.startPage558
oaire.citation.titleJournal of Intellectual Disability Research
oaire.citation.volume69
oaire.licenseConditionhttps://creativecommons.org/licenses/by-nc-nd/4.0/
oaire.versionVoR
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